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Splice‐site variant in the RPS7 5′‐UTR leads to a decrease in the mRNA level and development of Diamond‐Blackfan anemia.

Autor: Skorodumova, Liubov O., Davydenko, Ksenia A., Filatova, Alexandra Y., Skoblov, Mikhail Yu, Kulemin, Nikolay A., Khadzhieva, Maryam B., Zakharova, Elena S., Gordeeva, Veronika D., Smetanina, Nataliya S., Fedyushkina, Irina V., Anastasevich, Lyudmila A., Larin, Sergey S.

Publikováno v: Clinical Genetics; Jan2023, Vol. 103 Issue 1, p93-96, 4p

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Platelet functional abnormalities and clinical presentation in pediatric patients with germline RUNX1, ANKRD26, and ETV6 mutations.

Autor: Ovsyannikova GS; Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Moscow., Fedorova DV; Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Moscow. daria.fedorova@fccho-moscow.ru., Tesakov IP; Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Moscow., Martyanov AA; Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Moscow, Russian Federation; Center for Theoretical Problems of Physicochemical Pharmacology, Russian Academy of Sciences, Moscow., Ignatova AA; Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Moscow., Ponomarenko EA; Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Moscow., Zharkov PA; Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Moscow., Pavlova AV; Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Moscow., Raykina EV; Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Moscow., Maschan MA; Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Moscow., Panteleev MA; Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Moscow, Russian Federation; Center for Theoretical Problems of Physicochemical Pharmacology, Russian Academy of Sciences, Moscow, Russian Federation; Faculty of Physics, Lomonosov Moscow State University, Moscow, Russian Federation; Faculty of Biological and Medical Physics, Moscow Institute of Physics and Technology, Dolgoprudny., Novichkova GA; Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Moscow., Sveshnikova AN; Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Moscow, Russian Federation; Center for Theoretical Problems of Physicochemical Pharmacology, Russian Academy of Sciences, Moscow, Russian Federation; Faculty of Physics, Lomonosov Moscow State University, Moscow, Russian Federation; Faculty of Biological and Medical Physics, Moscow Institute of Physics and Technology, Dolgoprudny, Russian Federation; Sechenov First Moscow State Medical University, Moscow., Smetanina NS; Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Moscow.

Publikováno v: Haematologica [Haematologica] 2022 Oct 01; Vol. 107 (10), pp. 2511-2516. Date of Electronic Publication: 2022 Oct 01.